Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34367 | 103324;103325;103326 | chr2:178533516;178533515;178533514 | chr2:179398243;179398242;179398241 |
| N2AB | 32726 | 98401;98402;98403 | chr2:178533516;178533515;178533514 | chr2:179398243;179398242;179398241 |
| N2A | 31799 | 95620;95621;95622 | chr2:178533516;178533515;178533514 | chr2:179398243;179398242;179398241 |
| N2B | 25302 | 76129;76130;76131 | chr2:178533516;178533515;178533514 | chr2:179398243;179398242;179398241 |
| Novex-1 | 25427 | 76504;76505;76506 | chr2:178533516;178533515;178533514 | chr2:179398243;179398242;179398241 |
| Novex-2 | 25494 | 76705;76706;76707 | chr2:178533516;178533515;178533514 | chr2:179398243;179398242;179398241 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/K | None | None | 0.997 | N | 0.506 | 0.34 | 0.368743488249 | gnomAD-4.0.0 | 1.59172E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02371E-05 |
| R/T | rs749757727  |
-0.548 | 1.0 | N | 0.704 | 0.495 | 0.675097106362 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 9.97E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9839 | likely_pathogenic | 0.9832 | pathogenic | -0.432 | Destabilizing | 0.999 | D | 0.597 | neutral | None | None | None | None | I |
| R/C | 0.8914 | likely_pathogenic | 0.8797 | pathogenic | -0.504 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| R/D | 0.9895 | likely_pathogenic | 0.9892 | pathogenic | 0.083 | Stabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | I |
| R/E | 0.9532 | likely_pathogenic | 0.9514 | pathogenic | 0.226 | Stabilizing | 0.999 | D | 0.643 | neutral | None | None | None | None | I |
| R/F | 0.9872 | likely_pathogenic | 0.9851 | pathogenic | -0.153 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | I |
| R/G | 0.9589 | likely_pathogenic | 0.9571 | pathogenic | -0.753 | Destabilizing | 1.0 | D | 0.654 | neutral | D | 0.534251623 | None | None | I |
| R/H | 0.6823 | likely_pathogenic | 0.6751 | pathogenic | -1.059 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| R/I | 0.9648 | likely_pathogenic | 0.9614 | pathogenic | 0.426 | Stabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| R/K | 0.6577 | likely_pathogenic | 0.6829 | pathogenic | -0.438 | Destabilizing | 0.997 | D | 0.506 | neutral | N | 0.43104711 | None | None | I |
| R/L | 0.9186 | likely_pathogenic | 0.9131 | pathogenic | 0.426 | Stabilizing | 1.0 | D | 0.654 | neutral | None | None | None | None | I |
| R/M | 0.9745 | likely_pathogenic | 0.9731 | pathogenic | -0.145 | Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.524074702 | None | None | I |
| R/N | 0.9827 | likely_pathogenic | 0.9799 | pathogenic | -0.132 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| R/P | 0.9911 | likely_pathogenic | 0.9872 | pathogenic | 0.162 | Stabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | I |
| R/Q | 0.7274 | likely_pathogenic | 0.7276 | pathogenic | -0.168 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| R/S | 0.9875 | likely_pathogenic | 0.987 | pathogenic | -0.758 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.489556696 | None | None | I |
| R/T | 0.9776 | likely_pathogenic | 0.976 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | N | 0.466698479 | None | None | I |
| R/V | 0.9642 | likely_pathogenic | 0.9616 | pathogenic | 0.162 | Stabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| R/W | 0.8873 | likely_pathogenic | 0.8731 | pathogenic | 0.095 | Stabilizing | 1.0 | D | 0.741 | deleterious | N | 0.512510452 | None | None | I |
| R/Y | 0.9499 | likely_pathogenic | 0.9444 | pathogenic | 0.394 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.